LDH info

Canonical Allele Identifier: CA342839
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35868
dbSNP Id: rs121908747

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627581del , CM000669.2:g.117627581del GRCh38
NC_000007.13:g.117267635del , CM000669.1:g.117267635del GRCh37
NC_000007.12:g.117054871del NCBI36
NG_016465.4:g.166798del , LRG_663:g.166798del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3528del , LRG_663t1:c.3528del NP_000483.3:p.Lys1177SerfsTer15
XM_011515751.1:c.3618del XP_011514053.1:p.Lys1207SerfsTer15
XM_011515752.1:c.3618del XP_011514054.1:p.Lys1207SerfsTer15
XM_011515753.1:c.3285del XP_011514055.1:p.Lys1096SerfsTer15
XM_011515754.1:c.3285del XP_011514056.1:p.Lys1096SerfsTer15
ENST00000003084.10:c.3528del ENSP00000003084.6:p.Lys1177SerfsTer15
ENST00000426809.5:n.3438del ENSP00000389119.1:p.Lys1147SerfsTer15
ENST00000468795.1:n.353del